Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase

I A Glass; C A Swindlehurst; D A Aitken; W McCrea; E Boyd

doi:10.1136/jmg.26.2.127

Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase

J Med Genet. 1989 Feb;26(2):127-30. doi: 10.1136/jmg.26.2.127.

Authors

I A Glass¹, C A Swindlehurst, D A Aitken, W McCrea, E Boyd

Affiliation

¹ Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow.

Abstract

We report a 16 year old boy with the abnormal karyotype 46,XY,del(2)(q32.2q33.1) who has mental retardation, microcephaly, epilepsy, craniofacial dysmorphism, distinctive scalloped skin pigmentation, and normal levels of isocitrate dehydrogenase.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / enzymology
Abnormalities, Multiple / genetics
Adolescent
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, Pair 2*
Humans
Intellectual Disability / complications
Intellectual Disability / enzymology
Intellectual Disability / genetics
Isocitrate Dehydrogenase / metabolism*
Male
Microcephaly / complications
Microcephaly / enzymology
Microcephaly / genetics
Pigmentation Disorders / complications
Pigmentation Disorders / enzymology
Pigmentation Disorders / genetics

Substances

Isocitrate Dehydrogenase